Associated Papers
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
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Npj Genomic Medicine, 2024
39468051 (PubMed )
Supplement: 41525_2024_434_MOESM2_ESM.xlsx › Report_Outcomes_and_Variants
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.
Haryanyan G et al.
Journal of Human Genetics, 2021
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